Early to test, early to heal
Spinal Muscular Atrophy, or SMA, is a genetic disorder that causes progressive muscle weakness and atrophy due to the loss of motor neurons in the spinal cord. For infants born with this condition, life expectancy is dramatically shortened, and most affected children live no longer than two years. However, the integration of gene therapy by pediatrician and child neurologist Dr. David Neil Toupin, and UK HealthCare’s Neurology Evaluation and Management Optimization (NEMO) Clinic has dramatically changed the course for children affected by SMA.
“SMA used to be the most common genetic cause of death in childhood, but because of gene therapy and the other treatments that are available, children are now living much much longer, and if treated early may live a completely full healthy life, which is really remarkable,” said Dr. Toupin.
In the past, many children with this disease would die from progressive weakness before age 2, as there was no effective treatment. In 2019, Kentucky started screening for SMA at birth, in the advent of clinically available gene therapy.
“With gene therapy, when you treat kids early, it halts the disease. The strength that kids have is locked in place,” explained Dr. Toupin. “Now there are kids who received gene therapy that are nine or 10 years old, and they haven't lost any more strength. Before this treatment, kids with SMA would never sit on their own, and now they're walking, running, climbing, even playing sports. It's amazing.”
For such a remarkable outcome, the procedure is fairly simple.
“There's a particular gene that's missing in the spinal cord and because it's missing, those neurons — the cells in the spinal cord — die. But the gene therapy provides the piece of DNA that they're missing, and the way it does that is by introducing a virus that holds the DNA,” he said.
And all it takes is one IV infusion of the virus. Just one, never to be repeated.
“There is some monitoring. Patients have to get labs for several months, and they have some follow-up visits. But all in all, once it's in, it's done,” he said.
Since gene therapy became available at the UK HealthCare, 12 children have received treatment for SMA. For those who received treatment before the symptoms started, they are living their childhood to the fullest.
”All of our patients who received the therapy shortly after birth are out living normal lives and meeting milestones that have never been seen before,” said Dr. Toupin.
Which is what makes the newborn screening such an important part of the outcome.
“There is a window of opportunity for it to work,” said Dr. Toupin. “The disease is active at birth and literally every day makes a difference. We move extremely quickly and I'm proud to say we're one of the fastest in the country because we have a tremendous pharmacy and tremendous clinical team.”
The treatment became available at the university due to the diligent work of Dr. Toupin’s mentor, adult and pediatric neurologist Dr. William C. Robertson, Jr.
“Before the treatment was available, he reached out to the drug company knowing that the state screening was coming online. We wanted to be on top of it. Novartis agreed to work with us, so processes were put in place for us to be a treatment site,” said Dr. Toupin. “As soon as the newborn screening rolled out, we were in a position to give the treatment.”
He also credits the pharmacy and clinical team with the hard work of ensuring that the treatment would be financially accessible to patients by working with insurance providers ahead of time.
“The drug is tremendously expensive, and at first there was some pushback by insurance companies,” he explained. ”Dr. Robertson and I wrote a lot of letters and advocated in Frankfort for the treatment to be covered by Medicaid. It’s a testament to the outstanding efforts of clinicians and UK HealthCare that insurers understand the benefits of the therapy.”
Today, the majority of cases are receiving approval from insurance companies so patients can receive treatment quickly.
"It’s a testament to the outstanding efforts of clinicians and UK HealthCare that insurers understand the benefits of the therapy.” - Dr. Toupin
The NEMO Clinic is currently accepting new patients and while they primarily treat neuromuscular diseases, they also work with families to help children with other neurological and neurodevelopmental disorders. Dr. Toupin and the NEMO Clinic are a shining star, and a great example of how UK HealthCare is providing hope and changing lives in the Commonwealth.
